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Review of Therapeutic Options for Spinal Muscular Atrophy

Scripta Medica (Banja Luka), ISSN: 2303-7954, Vol: 52, Issue: 2, Page: 151-159
2021
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Article Description

Spinal Muscular Atrophy (SMA) is uncommon genetic (autosomal recessive) disease that deteriorates neuromuscular function of the affected person’s body by causing lower motor neuron damage, progress in muscle atrophy and in advanced cases leads to paralysis of muscles. Mainly skeletal and respiratory muscles are involved. SMA is present due to lack of SMA proteins, which are encoded by survival motor neuron-1 (SMN-1) genes. In mutation of SMN-1 genes, deficiency of SMN proteins occurs. SMA affects all age groups, but mainly and most severely children younger than 6 months of age. At present, risdiplam is a treatment option and the drug has been approved by the US Food Drug and Administration on 7 August 2020. The availability of the drug has led to increased financial, ethical and medical problems. SMA affected populations are regularly challenged to these issues.

Bibliographic Details

Arun Singh; Monica Jain; Rupa Kapadia; Dhirendra Kumar Mahawar; Shivankan Kakkar; Jaya Dadhich; Ritesh Kumar Chandel

Centre for Evaluation in Education and Science (CEON/CEES)

Medicine

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